Focal and segmental glomerulosclerosis (FSGS), also called focal sclerosis for short, is a common form of kidney disease defined by a particular pattern seen when a kidney biopsy specimen is examined under the microscope. Patients with this condition have increased amounts of protein in their urine, sometimes greatly increased. When urine protein excretion is quite high, a patient may have what nephrologists refer to as the "nephrotic syndrome" which is characterized by low protein levels in the blood, and edema, or swelling, which is most evident in the feet and legs. People with these conditions often, but not always, develop some degree of kidney failure, which may lead to the need for dialysis or kidney transplantation.
The Laboratory of Inherited Kidney Disease at Beth Israel Deaconess Medical Center and Harvard Medical School in Boston, Massachusetts, directed by Dr. Martin Pollak, seeks to identify genes that underlie the development of FSGS. We have identified ACTN4, a gene which encodes a protein important in the structure in the cytoskeleton of certain kidney cells, INF2, which encodes a member of the formin family of actin-regulating proteins, and APOL1, a minor apoprotein component of high-densitiy lipoprotein (HDL). We are now trying to find other FSGS genes and understand exactly how defects in already known FSGS genes lead to kidney disease.
African Americans are at disproportionate risk for non-diabetic kidney disease and FSGS in particular. Most of this disparity is due to two variants in the APOL1 gene. These variants confer resistance to trypanosomiasis, a serious disease in some African regions, and as such they have raised in frequency in Africa. Here at the Laboratory of Inherited Kidney Disease we are further investigating the biology that leads this APOL1-related form of kidney disease. If you are African American affected by non-diabetic kidney disease or have a relative with disease and you want to help with our research studies, we would like to hear from you.
In collaboration with the Urology and Nephrology Departments of Childrens Hospital Boston, we are analyzing data of subjects with kidney and/or urinary tract anomalies in order to identify the cause of these conditions. Renal and urinary tract malformations are common causes of renal failure in infants and young children. We are studying a wide range of these anomalies including horseshoe kidney, renal agenesis, multiple kidneys, hypoplastic kidneys, dysplastic kidneys, hydroureter with small kidney, double and ectopic ureters. By studying DNA we hope to identify genes that may be involved in the development of these kidney and urinary tract issues.
Dr. Martin Pollak's Laboratory in the Renal Division at Beth Israel Deaconess Medical Center is looking for healthy adult volunteers to take part in a research study. Taking part would include a short questionnaire, a saliva sample, and/or a one-time donation of four teaspoonful (20ml) of blood from a vein.
Please contact Andrea at firstname.lastname@example.org or 617-667-0467 for more information on any of these studies.
Website updated: 9/12/14